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- W1495492777 abstract "The autosomal recessive mutation tubby (tub) occurred spontaneously in C57BL/6J (B6) mice (Coleman and Eicher, 1990). Tubby mice exhibit retinal degeneration (Heckenlively et al., 1995), cochlear degeneration (Ohlemiller et al., 1997) and maturity onset obesity with insulin resistance (Coleman and Eicher, 1990). The tripartite character of the tubby phenotypes shows striking similarity to human obesity syndromes, such as Alstrom (Alstrom et al., 1959) and Bardet-Biedl (Bray, 1995). The mutation was identified within a novel gene, tub, by positional cloning (Kleyn et al., 1996; NobenTrauth et al., 1996). The mutation causes a splicing defect at the carboxy terminus, leading to a larger transcript which contains the unspliced intron. The TUB protein is predominantly hydrophilic and has no signal sequence, suggesting an intracellular localization. The sequence analysis of TUB did not reveal the function of this novel protein." @default.
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- W1495492777 date "2003-01-01" @default.
- W1495492777 modified "2023-09-27" @default.
- W1495492777 title "Towards Understanding the Function of the Tubby Gene Family in the Retina" @default.
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- W1495492777 doi "https://doi.org/10.1007/978-1-4615-0067-4_38" @default.
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